Molecular BiologybioRxivPreprint
Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.
Gaurav Sharma, Martina Paganin, Yu-Ting Huang…·Gabriella Viero
The paper identifies COL1A1 as a translation-specific biomarker of SMA severity and shows it can be rescued by SMN-restoring therapies in multiple models.